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Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

  • Published:
Journal of Inherited Metabolic Disease

Summary

We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hyperornithinaemia is absent. Enzyme and mutation studies confirmed the diagnosis. OAT deficiency should be included in differential diagnosis of neonatal hyperammonaemia.

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Author notes

  1. M. A. Cleary

    Present address: Great Ormond Street Hospital, London, WC1N 3JH, UK

Authors and Affiliations

  1. Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, M27 4HA, UK

    M. A. Cleary, T. J. de Koning & G. T. N. Besley

  2. Department of Metabolic and Endocrine Diseases, UMC Utrecht, Utrecht

    L. Dorland & R. Berger

  3. Department of Child Neurology, AMC Amsterdam, Amsterdam

    B. T. Poll-The

  4. Laboratory of Genetic Metabolic Diseases, AMC Amsterdam, Amsterdam, The Netherlands

    M. Duran

  5. Amino Acid Disorders Laboratory, Massachusetts General Hospital, Boston, Massachusetts, USA

    R. Mandell & V. E. Shih

  6. Department of Neonatal Screening, Sheffield Children’s Hospital, Sheffield, UK

    S. E. Olpin

Authors
  1. M. A. Cleary
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  2. L. Dorland
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  3. T. J. de Koning
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  4. B. T. Poll-The
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  5. M. Duran
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  6. R. Mandell
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  7. V. E. Shih
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  8. R. Berger
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  9. S. E. Olpin
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  10. G. T. N. Besley
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Corresponding author

Correspondence to G. T. N. Besley.

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Cleary, M.A., Dorland, L., de Koning, T.J. et al. Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation. J Inherit Metab Dis 28, 673–679 (2005). https://doi.org/10.1007/s10545-005-0074-1

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  • DOI: https://doi.org/10.1007/s10545-005-0074-1

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